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Journal of Medical Genetics|March 31, 2006
The molecular genetics of Marfan syndrome and related disordersP N Robinson, E Arteaga-Solis, C Baldock, et al.
Scientific Reports|February 16, 2016
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and SkinC Gistelinck, R Gioia, A Gagliardi, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
Breast Cancer Research and Treatment|February 29, 2012
Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testingK De Leeneer, M Van Bockstal, S De Brouwer, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
American Journal of Human Genetics|June 18, 2005
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, et al.
Human Molecular Genetics|July 27, 2001
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics|May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?L Faivre, G Collod-Beroud, L Adès, et al.
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